Die hypophosphatämische Rachitis mit Hyperparathyroidismus wird durch Mutationen am Klotho-Locus ausgelöst die zu einer massiven Aktivitätsvermehrung führen.
Hypophosphatämie | |
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Die Hypophosphatämie tritt bei aktivierenden Klotho-Mutationen infolge einer vermehrten renalen Phosphat-Ausscheidung auf. |
Hyperphosphaturie | |
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Die Hyperphosphaturie bei aktivierenden Klotho-Mutationen ist Folge einer Verminderung der Phosphattransporter in der Niere. |
Hypercalciämie | |
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Die Hypercalciämie bei aktivierenden Klotho-Mutationen ist sicher sekundäre Folge des gestörten Phosphat-, PTH- und Vitamin D-Stoffwechsels. |
Hyperparathyreoidismus | |
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Ein Hyperparathyreoidismus scheint typisch für aktivierende Klotho-Mutationen |
Vitamin D-Hypovitaminose | |
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Der Calcitriolmangel beruht auf vermindertes Synthese und verstärktem Abbau. |
1. |
Kurosu H et al. (2005) Suppression of aging in mice by the hormone Klotho. ![]() |
2. |
Brownstein CA et al. (2008) A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. ![]() |
3. |
Liu H et al. (2007) Augmented Wnt signaling in a mammalian model of accelerated aging. ![]() |
4. |
Imura A et al. (2007) alpha-Klotho as a regulator of calcium homeostasis. ![]() |
5. |
Haruna Y et al. (2007) Amelioration of progressive renal injury by genetic manipulation of Klotho gene. ![]() |
6. |
Chang Q et al. (2005) The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel. ![]() |
7. |
Bektas A et al. (2004) Klotho gene variation and expression in 20 inbred mouse strains. ![]() |
8. |
Arking DE et al. (2003) KLOTHO allele status and the risk of early-onset occult coronary artery disease. ![]() |
9. |
Manya H et al. (2002) Klotho protein deficiency leads to overactivation of mu-calpain. ![]() |
10. |
Fukino K et al. (2002) Regulation of angiogenesis by the aging suppressor gene klotho. ![]() |
11. |
Arking DE et al. (2002) Association of human aging with a functional variant of klotho. ![]() |
12. |
Koh N et al. (2001) Severely reduced production of klotho in human chronic renal failure kidney. ![]() |
13. |
Mori K et al. (2000) Disruption of klotho gene causes an abnormal energy homeostasis in mice. ![]() |
14. |
Saito Y et al. (2000) In vivo klotho gene delivery protects against endothelial dysfunction in multiple risk factor syndrome. ![]() |
15. |
Matsumura Y et al. (1998) Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein. ![]() |
16. |
Kuro-o M et al. (1997) Mutation of the mouse klotho gene leads to a syndrome resembling ageing. ![]() |
17. |
Ichikawa S et al. (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. ![]() |
18. |
Chen CD et al. (2007) Insulin stimulates the cleavage and release of the extracellular domain of Klotho by ADAM10 and ADAM17. ![]() |
19. |
Urakawa I et al. (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23. ![]() |
20. |
OMIM.ORG article Omim 604824![]() |